Author

Serge Amselem

InsermORCID 0000-0001-9506-3968Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Achille AoubaiD· 1 shared Alan BrowniD· 1 shared Alan J. QuigleyiD· 1 shared Alex von KriegsheimiD· 1 shared Alexandra DesdoitsiD· 1 shared Alexandre NguyeniD· 1 shared Alison M. MeynertiD· 1 shared Amelia ShoemarkiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Achille AoubaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineSciencePeer-reviewedApr 25, 2024

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati…·Pleasantine Mill

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

64 citationstop 1%

𝕏 PostBluesky

GeneticseLifePeer-reviewedJun 6, 2023

Identification of an A20 critical region harboring missense variations that lead to autoinflammation

Elma El Khouri, Farah Diab, Camille Louvrier…·Irina Giurgea

The paper identifies a critical region in the A20 OTU domain containing missense variations that cause autoinflammation by disrupting NF-κB inhibition.

17 citations

humanstatistical model

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